ClinVar Miner

Submissions for variant NM_012203.2(GRHPR):c.579A>G (p.Ala193=)

gnomAD frequency: 0.85807  dbSNP: rs309458
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Preventiongenetics, part of Exact Sciences RCV000250020 SCV000311878 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000020679 SCV000480137 benign Primary hyperoxaluria, type II 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000250020 SCV000711756 benign not specified 2016-02-02 criteria provided, single submitter clinical testing This is a RefSeq error. The reference base (c.579A) is the minor allele. This al lele (A) has been identified in 25.9% (2685/10378) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs309 458) and thus meets criteria to be classified as benign.
Invitae RCV001522556 SCV001732128 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000020679 SCV001762617 benign Primary hyperoxaluria, type II 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV001522556 SCV001827283 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
GeneReviews RCV000020679 SCV000041224 not provided Primary hyperoxaluria, type II no assertion provided literature only
Clinical Biochemistry Laboratory, Health Services Laboratory RCV000020679 SCV000239781 uncertain significance Primary hyperoxaluria, type II 2014-11-27 no assertion criteria provided in vitro
Natera, Inc. RCV000020679 SCV001462564 benign Primary hyperoxaluria, type II 2020-09-16 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000250020 SCV001741701 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000250020 SCV001958827 benign not specified no assertion criteria provided clinical testing

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